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Our patient was born full term and with no complications from non-consanguineous healthy parents. He was referred to the paediatrics department at 2 years of age for sparse hair. He had a history of recurrent and unexplained fever since he was 3 months old. He was unable to sweat and had dry skin. The maternal uncle of the proband, aged 20 years has the same complaint.
On examination, the growth and the mental development were normal. He had skin, hair (figure 1) and teeth (figure 2) abnormalities. His temperature was 38.3°C. The rest of the examination was unremarkable. Screening for sepsis was negative.
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What are the most likely diagnoses?
Keratitis-ichthyosis-deafness (KID) syndrome
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.